ID   HHLA1_HUMAN             Reviewed;         531 AA.
AC   C9JL84;
DT   18-MAY-2010, integrated into UniProtKB/Swiss-Prot.
DT   03-NOV-2009, sequence version 1.
DT   03-AUG-2022, entry version 74.
DE   RecName: Full=HERV-H LTR-associating protein 1;
DE   Flags: Precursor;
GN   Name=HHLA1;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC   Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC   Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
RC   TISSUE=Teratocarcinoma;
RX   PubMed=10329003; DOI=10.1006/geno.1999.5787;
RA   Kowalski P.E., Freeman J.D., Mager D.L.;
RT   "Intergenic splicing between a HERV-H endogenous retrovirus and two
RT   adjacent human genes.";
RL   Genomics 57:371-379(1999).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=16421571; DOI=10.1038/nature04406;
RA   Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M.,
RA   Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L.,
RA   Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S.,
RA   Asakawa T., Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A.,
RA   Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III,
RA   Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K.,
RA   Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P.,
RA   Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H.,
RA   Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B.,
RA   O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K.,
RA   Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L.,
RA   Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G.,
RA   Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W.,
RA   Platzer M., Shimizu N., Lander E.S.;
RT   "DNA sequence and analysis of human chromosome 8.";
RL   Nature 439:331-335(2006).
RN   [3]
RP   ALTERNATIVE SPLICING.
RX   PubMed=8382789; DOI=10.1093/nar/21.1.135;
RA   Feuchter-Murthy A.E., Freeman J.D., Mager D.L.;
RT   "Splicing of a human endogenous retrovirus to a novel phospholipase A2
RT   related gene.";
RL   Nucleic Acids Res. 21:135-143(1993).
CC   -!- SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=2;
CC         Comment=Additional isoforms seem to exist, due to intergenic splicing
CC         between the HHLA1 and OC90 genes. This event may be induced by the
CC         LTR promoter of an endogeneous retrovirus of the HERV-H family,
CC         localized in the intron of the HHLA1 gene.;
CC       Name=1;
CC         IsoId=C9JL84-1; Sequence=Displayed;
CC       Name=2; Synonyms=PLA2L;
CC         IsoId=C9JL84-2; Sequence=VSP_039212;
CC   -!- MISCELLANEOUS: [Isoform 2]: Expressed in teratocarcinoma cell lines.
CC       {ECO:0000305}.
CC   ---------------------------------------------------------------------------
CC   Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC   Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC   ---------------------------------------------------------------------------
DR   EMBL; AF110315; AAD13107.1; -; mRNA.
DR   EMBL; AC092817; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AC100868; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AC131042; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   RefSeq; NP_001138567.1; NM_001145095.1. [C9JL84-1]
DR   AlphaFoldDB; C9JL84; -.
DR   BioGRID; 115395; 1.
DR   GlyGen; C9JL84; 3 sites.
DR   iPTMnet; C9JL84; -.
DR   PhosphoSitePlus; C9JL84; -.
DR   BioMuta; HHLA1; -.
DR   PeptideAtlas; C9JL84; -.
DR   PRIDE; C9JL84; -.
DR   ProteomicsDB; 10668; -. [C9JL84-1]
DR   ProteomicsDB; 10669; -. [C9JL84-2]
DR   Antibodypedia; 67806; 23 antibodies from 10 providers.
DR   DNASU; 10086; -.
DR   Ensembl; ENST00000414222.2; ENSP00000388322.1; ENSG00000132297.13. [C9JL84-1]
DR   GeneID; 10086; -.
DR   KEGG; hsa:10086; -.
DR   MANE-Select; ENST00000414222.2; ENSP00000388322.1; NM_001145095.3; NP_001138567.1.
DR   UCSC; uc011liy.1; human. [C9JL84-1]
DR   CTD; 10086; -.
DR   DisGeNET; 10086; -.
DR   GeneCards; HHLA1; -.
DR   HGNC; HGNC:4904; HHLA1.
DR   HPA; ENSG00000132297; Not detected.
DR   MIM; 604109; gene.
DR   neXtProt; NX_C9JL84; -.
DR   OpenTargets; ENSG00000132297; -.
DR   PharmGKB; PA29277; -.
DR   VEuPathDB; HostDB:ENSG00000132297; -.
DR   eggNOG; ENOG502S3MP; Eukaryota.
DR   GeneTree; ENSGT00530000064699; -.
DR   HOGENOM; CLU_042998_0_0_1; -.
DR   InParanoid; C9JL84; -.
DR   OrthoDB; 798062at2759; -.
DR   PhylomeDB; C9JL84; -.
DR   PathwayCommons; C9JL84; -.
DR   SignaLink; C9JL84; -.
DR   BioGRID-ORCS; 10086; 0 hits in 195 CRISPR screens.
DR   GenomeRNAi; 10086; -.
DR   Pharos; C9JL84; Tdark.
DR   PRO; PR:C9JL84; -.
DR   Proteomes; UP000005640; Chromosome 8.
DR   RNAct; C9JL84; protein.
DR   Bgee; ENSG00000132297; Expressed in secondary oocyte and 13 other tissues.
DR   ExpressionAtlas; C9JL84; baseline and differential.
DR   Genevisible; C9JL84; HS.
DR   GO; GO:0005576; C:extracellular region; IEA:UniProtKB-SubCell.
DR   InterPro; IPR037643; HHLA1.
DR   PANTHER; PTHR15299; PTHR15299; 1.
PE   2: Evidence at transcript level;
KW   Alternative splicing; Glycoprotein; Reference proteome; Secreted; Signal.
FT   SIGNAL          1..29
FT                   /evidence="ECO:0000255"
FT   CHAIN           30..531
FT                   /note="HERV-H LTR-associating protein 1"
FT                   /id="PRO_0000394219"
FT   REGION          231..289
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          340..362
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        232..283
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   CARBOHYD        79
FT                   /note="N-linked (GlcNAc...) asparagine"
FT                   /evidence="ECO:0000255"
FT   CARBOHYD        143
FT                   /note="N-linked (GlcNAc...) asparagine"
FT                   /evidence="ECO:0000255"
FT   CARBOHYD        161
FT                   /note="N-linked (GlcNAc...) asparagine"
FT                   /evidence="ECO:0000255"
FT   VAR_SEQ         1..225
FT                   /note="MLGFLSRGPSMKLCMGLACVLSLWNTVSGIKGEAKKEKGMTFLPTTVSGLRE
FT                   EERKEKGVAFLATTELPARSIDLSALNLTELVNGMLSRALKDSKKFFSLLSVTSYSSFA
FT                   FHKFSVAVYNISNLKTVDPAKFPTRYCYCLNNRTNDLSDFTALLVDIIGNSTSYLTEIF
FT                   KSTSILSVNQSNESDCIFICVMTGKSGRNLSDFWEIEEKYPIINYTFTSGLSGVL ->
FT                   MEETNSSSKDMYQSPGEAEGWRWKKGSDRGQNLFRKHSKCLILLIRERFESPHSYICSP
FT                   VTFQFFYAQSVKHVNVTIDCLPE (in isoform 2)"
FT                   /evidence="ECO:0000303|PubMed:10329003"
FT                   /id="VSP_039212"
FT   CONFLICT        390
FT                   /note="L -> S (in Ref. 1; AAD13107)"
FT                   /evidence="ECO:0000305"
SQ   SEQUENCE   531 AA;  58297 MW;  3590C109EEF99A18 CRC64;
     MLGFLSRGPS MKLCMGLACV LSLWNTVSGI KGEAKKEKGM TFLPTTVSGL REEERKEKGV
     AFLATTELPA RSIDLSALNL TELVNGMLSR ALKDSKKFFS LLSVTSYSSF AFHKFSVAVY
     NISNLKTVDP AKFPTRYCYC LNNRTNDLSD FTALLVDIIG NSTSYLTEIF KSTSILSVNQ
     SNESDCIFIC VMTGKSGRNL SDFWEIEEKY PIINYTFTSG LSGVLGAATR GTARTSKPTT
     KSQKTLPSTS PGHWTQSTPW ASALRSSPWT ETAAPSETEE TLNTGRPPEL PARATATWFS
     ASHTLPALAT RRVARTQWLT ADRQTWASIS SVPWAQTISE KKPGGSLWET RSSPPTTAGT
     EEAMNTTSLL APAAEIMATP GSPSQASPTL GAFTHGTQTP SPTKATAPRY PQTGDLSAEW
     PFTAGEEPVL VPRPHQVSRC PQPLFKVGAM AAAPLTLAIQ RLNPCLMELC QFFQQCLCMS
     QRSPRTEDMR YCLEYYSWFL KNATYICQRV KRVSHSHTLK QKCLENICKS V